Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | FGFR2 |
Variant | M536I |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 M536I (corresponds to M535I in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). M536I results in increased Fgfr2 kinase activity and enhanced cell proliferation in the presence of ligand in culture (PMID: 23908597). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 M536I |
Transcript | NM_022970.4 |
gDNA | chr10:g.121498562C>G |
cDNA | c.1608G>C |
Protein | p.M536I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006717708.4 | chr10:g.121500833C>G | c.1608G>C | p.M536I | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121498562C>G | c.1608G>C | p.M536I | RefSeq | GRCh38/hg38 |
XM_006717708.3 | chr10:g.121500833C>G | c.1608G>C | p.M536I | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121498562C>G | c.1608G>C | p.M536I | RefSeq | GRCh38/hg38 |
XM_017015920 | chr10:g.121500833C>G | c.1608G>C | p.M536I | RefSeq | GRCh38/hg38 |
XM_006717708 | chr10:g.121500833C>G | c.1608G>C | p.M536I | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121498562C>G | c.1608G>C | p.M536I | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121498562C>G | c.1608G>C | p.M536I | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121498553C>G | c.1608G>C | p.M536I | RefSeq | GRCh38/hg38 |
NM_001320658 | chr10:g.121498553C>G | c.1608G>C | p.M536I | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121498562C>G | c.1608G>C | p.M536I | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121498562C>G | c.1608G>C | p.M536I | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121498553C>G | c.1608G>C | p.M536I | RefSeq | GRCh38/hg38 |
XM_017015920.2 | chr10:g.121500833C>G | c.1608G>C | p.M536I | RefSeq | GRCh38/hg38 |
XM_017015920.3 | chr10:g.121500833C>G | c.1608G>C | p.M536I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 M536I | Advanced Solid Tumor | decreased response | Dovitinib | Preclinical | Actionable | In a preclinical study, transformed cells expressing FGFR2 M536I demonstrated a decreased response to treatment with Dovitinib (TKI258) (PMID: 23908597). | 23908597 |
FGFR2 M536I | Advanced Solid Tumor | sensitive | Ponatinib | Preclinical | Actionable | In a preclinical study, Iclusig (ponatinib) inhibited Fgfr2 phosphorylation and proliferation in transformed cells expressing FGFR2 M536I (PMID: 23908597). | 23908597 |
FGFR2 M536I | Advanced Solid Tumor | decreased response | PD173074 | Preclinical | Actionable | In a preclinical study, transformed cells expressing FGFR2 M536I demonstrated a decreased response to treatment with PD173074 (PMID: 23908597). | 23908597 |